ClinVar for PMC (Select 198523) - ClinVar - NCBI

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Links from PMC

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2766824	NM_000335.5(SCN5A):c.4220G>C (p.Gly1407Ala)	SCN5A (G1407A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 488728	NM_001099404.2(SCN5A):c.612-1G>C	SCN5A	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218854	NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)	ALDH5A1 (A237S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 201572	NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	SCN5A (F1616del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +11 more	GPathogenic/Likely pathogenic
Select item 67939	NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)	SCN5A (R1631H +5 more)	Single nucleotide variant (missense variant)	Sick sinus syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 9396	NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)	SCN5A (T220I)	Single nucleotide variant (missense variant +1 more)	SCN5A-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 9395	NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	SCN5A (G1408R +2 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 9394	NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)	SCN5A (P1298L +2 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia	GUncertain significance
Select item 9374	NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	SCN5A (R1623* +5 more)	Single nucleotide variant (nonsense)	SCN5A-Related Disorders +12 more	GPathogenic